Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.

Détails

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Etat: Public
Version: Final published version
Licence: Non spécifiée
ID Serval
serval:BIB_CFDB8F834667
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
Périodique
Swiss medical weekly
Auteur⸱e⸱s
Bregou Bourgeois A., Aubry-Rozier B., Bonafé L., Laurent-Applegate L., Pioletti D.P., Zambelli P.Y.
ISSN
1424-3997 (Electronic)
ISSN-L
0036-7672
Statut éditorial
Publié
Date de publication
2016
Peer-reviewed
Oui
Volume
146
Pages
w14322
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Résumé
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidisciplinary management improves quality of life for patients with osteogenesis imperfecta. It consists of physical therapy, medical treatment and orthopaedic surgery as necessary. Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Other more recent drug therapies include teriparatide and denosumab. All these therapies target the symptoms and have effects on the mechanical properties of bone due to modification of bone remodelling, therefore influencing skeletal outcome and orthopaedic surgery. Innovative therapies, such as progenitor and mesenchymal stem cell transplantation, targeting the specific altered pathway rather than the symptoms, are in the process of development.
Mots-clé
Bone Density Conservation Agents/therapeutic use, Denosumab/therapeutic use, Diphosphonates/therapeutic use, Fractures, Bone/prevention & control, Humans, Osteogenesis Imperfecta/diagnosis, Osteogenesis Imperfecta/drug therapy, Osteogenesis Imperfecta/surgery, Osteogenesis Imperfecta/therapy, Physical Therapy Modalities, Teriparatide/therapeutic use
Pubmed
Open Access
Oui
Création de la notice
01/07/2016 10:25
Dernière modification de la notice
21/11/2022 9:09
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